The BrainTeaser Ontology for ALS and MS Clinical Data

This repository contains the BrainTeaser Ontology (BTO) whose purpose is to jointly model both Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS). BTO serves multiple purposes: to provide a unified and comprehensive conceptual view about ALS and MS, which are typically dealt with separately, allowing us to coherently integrate the data coming from the different medical partners in the project; to seamlessly represent both retrospective data and prospective data, produced during the lifetime of BRAINTEASER to allow for sharing and re-using the BRAINTEASER datasets according to Open Science and FAIR principles. BTO is innovative since it relies on very few seed concepts - Patient, Clinical Trial, Disease, Event - which allow us to jointly model ALS and MS and to grasp the time dimension entailed by the progression of such diseases. Indeed, the core idea is that a Patient participates in a Clinical Trial, suffers from some Diseases, and undergoes Events. These Events are different in nature and cover a wide range of cases, e.g. Onset, Pregnancy, Symptom, Trauma, Diagnostic Procedure (like evoked potentials or ALS-FRS questionnaires) Therapeutic Procedure (like Mechanical Ventilation for ALS or Disease-Modifying Therapy for MS), Relapse, and more. Overall, this event-based approach allows us to model ALS and MS in an unified way, sharing concepts among these two diseases, and to track what happens during their progression. The full BTO documentation can be accessed at https://brainteaser.dei.unipd.it/ontology/. The BTO has been used to share the BRAINTEASER ALS and MS Datasets.本仓库包含BrainTeaser本体（BrainTeaser Ontology，简称BTO），其旨在联合建模肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis，ALS）与多发性硬化症（Multiple Sclerosis，MS）。 BTO具备多重应用价值： 1. 为通常被单独研究的ALS与MS提供统一且全面的概念视图，进而实现对项目内不同医疗合作方所产出数据的连贯整合； 2. 无缝呈现BRAINTEASER项目全周期内产生的回顾性数据与前瞻性数据； 3. 遵循开放科学（Open Science）与FAIR原则，实现BRAINTEASER数据集的共享与复用。 BTO的创新之处在于其仅依赖极少量核心种子概念——患者（Patient）、临床试验（Clinical Trial）、疾病（Disease）、事件（Event）——即可联合建模ALS与MS，并捕捉这两类疾病进展所蕴含的时间维度。 其核心逻辑为：患者参与临床试验、罹患特定疾病，并经历各类事件。这些事件性质各异，涵盖诸多场景，例如发病（Onset）、妊娠（Pregnancy）、症状（Symptom）、创伤（Trauma）、诊断操作（Diagnostic Procedure，如诱发电位检查或ALS-FRS量表问卷）、治疗操作（Therapeutic Procedure，如针对ALS的机械通气或针对MS的疾病修饰治疗）、复发（Relapse）等。总体而言，这种基于事件的建模方式能够以统一框架对ALS与MS进行建模，在两类疾病间共享概念，并追踪疾病进展过程中的各类变化。 完整的BTO文档可通过https://brainteaser.dei.unipd.it/ontology/访问。 该BTO已被用于共享BRAINTEASER的ALS与MS数据集。